Incidental Mutation 'R7187:Dlgap1'
| ID |
559391 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dlgap1
|
| Ensembl Gene |
ENSMUSG00000003279 |
| Gene Name |
DLG associated protein 1 |
| Synonyms |
Sapap1, Gkap, GKAP/SAPAP, SAPAP1, D17Bwg0511e, DAP-1 beta, 4933422O14Rik |
| MMRRC Submission |
045377-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7187 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
70276068-71128408 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70823093 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 26
(H26R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060072]
[ENSMUST00000133983]
[ENSMUST00000135938]
[ENSMUST00000146730]
[ENSMUST00000155016]
|
| AlphaFold |
Q9D415 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060072
AA Change: H26R
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000052858
Gene: ENSMUSG00000003279
AA Change: H26R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
180 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
539 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
559 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
642 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
643 |
982 |
6.8e-139 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133983
AA Change: H26R
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116716
Gene: ENSMUSG00000003279
AA Change: H26R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
180 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
539 |
N/A |
INTRINSIC |
|
low complexity region
|
542 |
559 |
N/A |
INTRINSIC |
|
low complexity region
|
628 |
642 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
643 |
982 |
6.8e-139 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135938
AA Change: H26R
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118497
Gene: ENSMUSG00000003279
AA Change: H26R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
180 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
610 |
624 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
625 |
964 |
9.3e-139 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146730
AA Change: H26R
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000116072
Gene: ENSMUSG00000003279
AA Change: H26R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
180 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
552 |
569 |
N/A |
INTRINSIC |
|
low complexity region
|
638 |
652 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
653 |
933 |
9.5e-106 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155016
AA Change: H26R
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000122896
Gene: ENSMUSG00000003279
AA Change: H26R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
180 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
536 |
N/A |
INTRINSIC |
|
low complexity region
|
552 |
569 |
N/A |
INTRINSIC |
|
low complexity region
|
638 |
652 |
N/A |
INTRINSIC |
|
Pfam:GKAP
|
660 |
992 |
2e-153 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
G |
2: 25,327,733 (GRCm39) |
Y716C |
probably damaging |
Het |
| Abcc1 |
A |
G |
16: 14,284,861 (GRCm39) |
I1237V |
probably benign |
Het |
| Adam34 |
C |
T |
8: 44,105,565 (GRCm39) |
A27T |
probably benign |
Het |
| Aff3 |
T |
C |
1: 38,257,478 (GRCm39) |
S415G |
probably damaging |
Het |
| Ak7 |
T |
C |
12: 105,711,532 (GRCm39) |
Y390H |
probably benign |
Het |
| Arap2 |
A |
C |
5: 62,826,396 (GRCm39) |
M1056R |
probably damaging |
Het |
| Brf1 |
T |
C |
12: 112,923,945 (GRCm39) |
Y676C |
unknown |
Het |
| Cachd1 |
T |
A |
4: 100,833,552 (GRCm39) |
H776Q |
possibly damaging |
Het |
| Cacng7 |
T |
C |
7: 3,385,183 (GRCm39) |
V28A |
probably damaging |
Het |
| Camk2g |
A |
T |
14: 20,792,780 (GRCm39) |
D359E |
probably benign |
Het |
| Cd209b |
T |
C |
8: 3,976,638 (GRCm39) |
D16G |
probably benign |
Het |
| Ceacam5 |
A |
G |
7: 17,493,410 (GRCm39) |
E811G |
possibly damaging |
Het |
| Cecr2 |
T |
A |
6: 120,733,647 (GRCm39) |
S545T |
probably benign |
Het |
| Cep55 |
T |
C |
19: 38,048,806 (GRCm39) |
|
probably null |
Het |
| Ctif |
C |
A |
18: 75,770,290 (GRCm39) |
V32L |
probably damaging |
Het |
| Cwc27 |
G |
A |
13: 104,797,900 (GRCm39) |
A353V |
probably benign |
Het |
| Dclk3 |
T |
A |
9: 111,314,064 (GRCm39) |
S713R |
probably damaging |
Het |
| Dlec1 |
C |
T |
9: 118,941,214 (GRCm39) |
H255Y |
probably benign |
Het |
| Dydc1 |
C |
T |
14: 40,800,051 (GRCm39) |
T19I |
possibly damaging |
Het |
| Efcab12 |
G |
A |
6: 115,800,474 (GRCm39) |
P183L |
not run |
Het |
| Eif1ad19 |
T |
C |
12: 87,740,708 (GRCm39) |
|
probably benign |
Het |
| Eri3 |
C |
A |
4: 117,446,343 (GRCm39) |
Q219K |
probably benign |
Het |
| Fam135a |
A |
G |
1: 24,083,295 (GRCm39) |
L310P |
probably damaging |
Het |
| Fgd5 |
T |
A |
6: 91,965,272 (GRCm39) |
S502T |
possibly damaging |
Het |
| Fgf8 |
A |
G |
19: 45,730,106 (GRCm39) |
S57P |
probably benign |
Het |
| Gls |
T |
C |
1: 52,259,139 (GRCm39) |
E154G |
probably damaging |
Het |
| Gm28042 |
T |
C |
2: 119,870,176 (GRCm39) |
L705P |
probably damaging |
Het |
| Golgb1 |
C |
A |
16: 36,736,512 (GRCm39) |
Q1961K |
probably benign |
Het |
| Herc3 |
C |
A |
6: 58,833,616 (GRCm39) |
Q168K |
probably benign |
Het |
| Il31ra |
C |
A |
13: 112,682,845 (GRCm39) |
C168F |
probably benign |
Het |
| Ino80 |
A |
T |
2: 119,257,072 (GRCm39) |
D860E |
probably benign |
Het |
| Iqcm |
T |
G |
8: 76,480,044 (GRCm39) |
L334R |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,641,204 (GRCm39) |
D1587G |
possibly damaging |
Het |
| Map4 |
T |
A |
9: 109,882,201 (GRCm39) |
V355E |
probably benign |
Het |
| Mapk13 |
T |
A |
17: 28,995,361 (GRCm39) |
I194N |
probably damaging |
Het |
| Mtus2 |
A |
G |
5: 148,013,515 (GRCm39) |
T103A |
probably benign |
Het |
| Naglu |
G |
T |
11: 100,961,158 (GRCm39) |
G70W |
probably benign |
Het |
| Nlrp4f |
A |
T |
13: 65,343,201 (GRCm39) |
M126K |
possibly damaging |
Het |
| Or4c120 |
T |
C |
2: 89,001,714 (GRCm39) |
|
probably benign |
Het |
| Or5p61 |
A |
T |
7: 107,758,585 (GRCm39) |
V165E |
probably benign |
Het |
| Pdia4 |
T |
C |
6: 47,790,193 (GRCm39) |
T16A |
unknown |
Het |
| Pou6f2 |
G |
A |
13: 18,414,298 (GRCm39) |
A159V |
|
Het |
| Ripor1 |
A |
G |
8: 106,344,506 (GRCm39) |
T547A |
probably benign |
Het |
| Rundc3b |
A |
G |
5: 8,542,506 (GRCm39) |
S389P |
probably damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spats2 |
T |
C |
15: 99,110,054 (GRCm39) |
S484P |
probably benign |
Het |
| Supv3l1 |
G |
A |
10: 62,271,328 (GRCm39) |
T403I |
probably damaging |
Het |
| Tacstd2 |
G |
A |
6: 67,512,180 (GRCm39) |
R171W |
probably damaging |
Het |
| Taok2 |
A |
T |
7: 126,471,552 (GRCm39) |
F542L |
probably damaging |
Het |
| Tbc1d31 |
T |
A |
15: 57,801,459 (GRCm39) |
N331K |
possibly damaging |
Het |
| Tff2 |
A |
T |
17: 31,361,200 (GRCm39) |
C118S |
probably damaging |
Het |
| Tmprss7 |
G |
A |
16: 45,498,317 (GRCm39) |
T354I |
possibly damaging |
Het |
| Tmtc3 |
A |
T |
10: 100,313,774 (GRCm39) |
F33I |
probably damaging |
Het |
| Tpbpa |
G |
A |
13: 61,088,399 (GRCm39) |
|
probably benign |
Het |
| Ube3a |
G |
T |
7: 58,925,653 (GRCm39) |
V165F |
probably benign |
Het |
| Vmn2r4 |
T |
G |
3: 64,322,681 (GRCm39) |
T13P |
probably benign |
Het |
| Wnt8b |
A |
G |
19: 44,500,121 (GRCm39) |
D236G |
probably benign |
Het |
| Ythdf3 |
C |
A |
3: 16,258,451 (GRCm39) |
D210E |
probably benign |
Het |
| Zfp110 |
T |
A |
7: 12,583,753 (GRCm39) |
Y800* |
probably null |
Het |
|
| Other mutations in Dlgap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Dlgap1
|
APN |
17 |
70,823,080 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01413:Dlgap1
|
APN |
17 |
70,823,069 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01531:Dlgap1
|
APN |
17 |
70,823,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02226:Dlgap1
|
APN |
17 |
70,823,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB009:Dlgap1
|
UTSW |
17 |
70,823,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB019:Dlgap1
|
UTSW |
17 |
70,823,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0453:Dlgap1
|
UTSW |
17 |
71,068,341 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0482:Dlgap1
|
UTSW |
17 |
70,823,185 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0520:Dlgap1
|
UTSW |
17 |
70,823,989 (GRCm39) |
nonsense |
probably null |
|
|
R1951:Dlgap1
|
UTSW |
17 |
71,068,306 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2072:Dlgap1
|
UTSW |
17 |
70,969,765 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2076:Dlgap1
|
UTSW |
17 |
71,093,826 (GRCm39) |
nonsense |
probably null |
|
|
R3438:Dlgap1
|
UTSW |
17 |
70,823,356 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3743:Dlgap1
|
UTSW |
17 |
71,025,221 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3881:Dlgap1
|
UTSW |
17 |
71,093,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3981:Dlgap1
|
UTSW |
17 |
70,823,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4043:Dlgap1
|
UTSW |
17 |
71,068,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4272:Dlgap1
|
UTSW |
17 |
71,073,038 (GRCm39) |
missense |
probably benign |
|
|
R4273:Dlgap1
|
UTSW |
17 |
71,073,038 (GRCm39) |
missense |
probably benign |
|
|
R4557:Dlgap1
|
UTSW |
17 |
70,823,684 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4652:Dlgap1
|
UTSW |
17 |
71,068,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4771:Dlgap1
|
UTSW |
17 |
70,900,375 (GRCm39) |
nonsense |
probably null |
|
|
R5000:Dlgap1
|
UTSW |
17 |
71,073,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5004:Dlgap1
|
UTSW |
17 |
71,025,222 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5291:Dlgap1
|
UTSW |
17 |
71,025,205 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5304:Dlgap1
|
UTSW |
17 |
71,122,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5473:Dlgap1
|
UTSW |
17 |
70,824,025 (GRCm39) |
intron |
probably benign |
|
|
R5522:Dlgap1
|
UTSW |
17 |
70,823,993 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5586:Dlgap1
|
UTSW |
17 |
71,125,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5742:Dlgap1
|
UTSW |
17 |
71,025,194 (GRCm39) |
missense |
probably benign |
|
|
R5802:Dlgap1
|
UTSW |
17 |
71,073,086 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5850:Dlgap1
|
UTSW |
17 |
71,094,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5857:Dlgap1
|
UTSW |
17 |
71,122,388 (GRCm39) |
intron |
probably benign |
|
|
R5883:Dlgap1
|
UTSW |
17 |
70,824,008 (GRCm39) |
intron |
probably benign |
|
|
R6045:Dlgap1
|
UTSW |
17 |
71,125,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6336:Dlgap1
|
UTSW |
17 |
71,122,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6448:Dlgap1
|
UTSW |
17 |
70,900,325 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6682:Dlgap1
|
UTSW |
17 |
71,094,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6795:Dlgap1
|
UTSW |
17 |
71,125,069 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7147:Dlgap1
|
UTSW |
17 |
70,969,753 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7382:Dlgap1
|
UTSW |
17 |
71,094,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7859:Dlgap1
|
UTSW |
17 |
70,823,683 (GRCm39) |
missense |
probably benign |
|
|
R7932:Dlgap1
|
UTSW |
17 |
70,823,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8477:Dlgap1
|
UTSW |
17 |
70,823,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8673:Dlgap1
|
UTSW |
17 |
71,122,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8866:Dlgap1
|
UTSW |
17 |
70,823,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8910:Dlgap1
|
UTSW |
17 |
71,093,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8997:Dlgap1
|
UTSW |
17 |
70,823,528 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9012:Dlgap1
|
UTSW |
17 |
70,823,182 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9035:Dlgap1
|
UTSW |
17 |
70,823,855 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9067:Dlgap1
|
UTSW |
17 |
71,116,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9361:Dlgap1
|
UTSW |
17 |
71,068,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9464:Dlgap1
|
UTSW |
17 |
70,823,964 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9550:Dlgap1
|
UTSW |
17 |
71,093,902 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9564:Dlgap1
|
UTSW |
17 |
70,964,458 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9565:Dlgap1
|
UTSW |
17 |
70,964,458 (GRCm39) |
missense |
probably benign |
0.02 |
|
T0975:Dlgap1
|
UTSW |
17 |
70,823,950 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Z1176:Dlgap1
|
UTSW |
17 |
71,122,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Dlgap1
|
UTSW |
17 |
70,969,738 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TATATAGCAGTGCCAAGGAAAACAC -3'
(R):5'- ACTGATCCAGCAGGTTGGTG -3'
Sequencing Primer
(F):5'- GGAAAACACTAACTCCTTGTCTTTG -3'
(R):5'- AGGGCACTCTCGTCCTTCAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation